A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5488864



Internal ID8466268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226955387..226957064hg38UCSC Ensembl
chr1:227143088..227144765hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672186
Supporting Variants
SamplesHG00608
Known GenesADCK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5488864
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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